ClinVar Miner

Variants studied for chromosome 4q21 deletion syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
2 0 0 0 0 2

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic total
ABCG2, ABRAXAS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, ANTXR2, ARHGAP24, ATOH1, BMP3, BMPR1B, BMPR1B-DT, C4orf36, CCSER1, CDS1, CFAP299, COPS4, COQ2, DMP1, DSPP, EIF4E, ENOPH1, FAM13A, FGF5, GK2, GPAT3, GPRIN3, GRID2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC02267, LINC02994, LNCPRESS2, LOC100507053, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111365205, LOC112935970, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC116158501, LOC116158502, LOC116158503, LOC116158504, LOC116158505, LOC121053188, LOC121053189, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC121725179, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC123477791, LOC123477792, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, MAPK10, MEPE, METAP1, MIR3684, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, NAA11, NAP1L5, NKX6-1, NUDT9, PCAT4, PDHA2, PDLIM5, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRDM8, PRKG2, PTPN13, PYURF, RAP1GDS1, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SMARCAD1, SMARCAD1-DT, SNCA, SNORD143, SNORD144, SPARCL1, SPP1, STPG2, THAP9, TIGD2, TMEM150C, TSPAN5, TSPAN5-DT, UNC5C, WDFY3 1 1
ABRAXAS1, CDS1, COPS4, COQ2, ENOPH1, GPAT3, HELQ, HNRNPD, HNRNPDL, HPSE, LIN54, MRPS18C, NKX6-1, PLAC8, SCD5, SEC31A, THAP9, TMEM150C 1 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic total
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1

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